NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)
|
rs28935203
|
0.00001
|
NM_001252024.2(TRPM1):c.279+147T>G
|
rs150441866
|
0.00001
|
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
|
rs1569541006
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
|
rs1557055337
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)
|
rs886044882
|
|
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)
|
rs1569541207
|
|
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)
|
rs868953385
|
|
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
|
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
|
rs1569540665
|
|
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)
|
rs2148391915
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
NM_000273.3(GPR143):c.548+2T>A
|
rs2083438278
|
|
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter)
|
rs1400504292
|
|
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)
|
rs1569442206
|
|
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)
|
rs1567725425
|
|
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)
|
rs1569334260
|
|
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)
|
rs2067562961
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
NM_001399.5(EDA):c.161A>T (p.His54Leu)
|
rs1569272194
|
|
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])
|
rs1064793104
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs)
|
rs1569499015
|
|
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)
|
rs104886217
|
|
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)
|
rs281874713
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|